Lista de obras -

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

artículo científico publicado en 2010

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

artículo científico publicado en 2012

A novel MSH2 germline mutation in a Druze HNPCC family

artículo científico publicado en 2007

Abnormal Findings Detected by Multi-modality Breast Imaging and Biopsy Results in a High-risk Clinic

artículo científico publicado en 2017

Abstracts from the 10th C1-inhibitor deficiency workshop.

artículo científico publicado en 2017

An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2016

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

artículo científico publicado en 2015

Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women

scientific article published on 17 September 2008

Appendectomy and cancer risk in Jewish BRCA1 and BRCA2 mutation carriers ⬇️

artículo científico publicado el 9 de octubre de 2011

Are VNTRs co-localizing with breast cancer-associated SNPs?

artículo científico publicado en 2017

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

artículo científico publicado en 2015

Association between variants of 5-hydroxytryptamine receptor 3C (HTR3C) and chemotherapy-induced symptoms in women receiving adjuvant treatment for breast cancer

artículo científico publicado en 2014

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

artículo científico publicado en 2016

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2010

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

artículo científico publicado en 2015

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

artículo científico publicado en 2015

Breast cancer risk prediction accuracy in Jewish Israeli high-risk women using the BOADICEA and IBIS risk models

artículo científico publicado en 2013

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

artículo científico publicado en 2016

Breast cancer surveillance for BRCA1/2 mutation carriers - is "early detection" early enough?

scientific article published on 06 November 2019

Cancer risk in Jewish BRCA1 and BRCA2 mutation carriers: Effects of oral contraceptive use and parental origin of mutation ⬇️

artículo científico publicado el 16 de abril de 2011

Cancer risks in Jewish male BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2015

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Circulating cell-free DNA (cfDNA) levels in BRCA1 and BRCA2 mutation carriers: A preliminary study

artículo científico publicado en 2020

Colorectal and Endometrial Cancer Risk and Age at Diagnosis in BLMAsh Mutation Carriers

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

artículo científico publicado en 2010

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2008

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

artículo científico publicado en 2010

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

artículo científico publicado en 2011

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

artículo científico publicado en 2010

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

De novo mutation in MEN1 is not associated with parental somatic mosaicism

artículo científico publicado en 2016

De novo pathogenic germline variant in PALB2 in a patient with pancreatic cancer

scientific article published on 01 April 2020

Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants

artículo científico publicado en 2020

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2017

Evidence for a link between TNFRSF11A and risk of breast cancer

article

Exploring the link between MORF4L1 and risk of breast cancer

artículo científico publicado en 2011

FMR1 CGG allele length in Israeli BRCA1/BRCA2 mutation carriers and the general population display distinct distribution patterns

artículo científico publicado en 2014

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2016

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

artículo científico publicado en 2020

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

artículo científico publicado en 2016

GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer

artículo científico publicado en 2015

Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant

article

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

artículo científico publicado en 2012

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

artículo científico publicado en 2013

Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer

artículo científico publicado en 2007

Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel ⬇️

artículo científico publicado el 20 de octubre de 2010

Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.

artículo científico publicado en 2012

Germline mutations in RAD51C in Jewish high cancer risk families

artículo científico publicado en 2012

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

artículo científico publicado en 2012

Haplotype of the C61G BRCA1 mutation in Polish and Jewish individuals

artículo científico publicado en 2009

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations.

artículo científico publicado en 2009

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

artículo científico publicado en 2019

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

artículo científico publicado en 2017

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

artículo científico publicado en 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

artículo científico publicado en 2016

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

artículo científico publicado en 2015

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

artículo científico publicado en 2017

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

artículo científico publicado en 2016

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

artículo científico publicado en 2010

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

artículo científico publicado en 2011

Involvement of IGF-1R regulation by miR-515-5p modifies breast cancer risk among BRCA1 carriers

artículo científico publicado en 2013

Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation

artículo científico publicado en 2018

MC1R variant alleles and malignant melanoma risk in Israel.

artículo científico publicado en 2009

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

Monoclonal origin of anatomically distinct basal cell carcinomas

artículo científico publicado en 2006

Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms

scientific article published on 12 April 2019

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

artículo científico publicado en 2013

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

artículo científico publicado en 2018

Mutational analysis of candidate genes in Israeli male breast cancer cases.

artículo científico publicado en 2018

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

artículo científico publicado en 2015

Parkinson's disease genes do not segregate with breast cancer genes' loci

artículo científico publicado en 2013

Phenocopy breast cancer rates in Israeli BRCA1 BRCA2 mutation carrier families: is the risk increased in non-carriers? ⬇️

artículo científico publicado el 24 de noviembre de 2011

Phenotypic characteristics of colorectal cancer in BRCA1/2 mutation carriers.

artículo científico publicado en 2018

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

artículo científico publicado en 2020

Primary Peritoneal Serous Carcinoma in Men: A Rare and Non-BRCA-associated Entity

artículo científico publicado en 2017

RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies

artículo científico publicado en 2007

Radiation-Associated Secondary Malignancies in BRCA Mutation Carriers Treated for Breast Cancer

artículo científico publicado en 2020

Recurrent germline mutations in BRCA1 and BRCA2 genes in high risk families in Israel ⬇️

artículo científico publicado el 8 de marzo de 2012

SULT1E1 and ID2 genes as candidates for inherited predisposition to breast and ovarian cancer in Jewish women

artículo científico publicado en 2008

Sequence variants in SLC6A3, DRD2, and BDNF genes and time to levodopa-induced dyskinesias in Parkinson's disease

artículo científico publicado en 2014

The 471delAAAG mutation and C353T polymorphism in the RNASEL gene in sporadic and inherited cancer in Israel

scientific article published on 31 August 2006

The CYP17A1 -34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2010

The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews.

artículo científico publicado en 2006

The RNF146 and ECHDC1 genes as candidates for inherited breast and ovarian cancer in Jewish Ashkenazi women.

artículo científico publicado en 2009

The founder Ashkenazi Jewish mutations in the MSH2 and MSH6 genes in Israeli patients with gastric and pancreatic cancer ⬇️

artículo científico publicado el 1 de junio de 2012

The leucine rich repeat kinase 2 (LRRK2) G2019S substitution mutation. Association with Parkinson disease, malignant melanoma and prevalence in ethnic groups in Israel.

artículo científico publicado en 2009

The melanocortin 1 receptor (Mc1r) variants do not account for the co-occurrence of Parkinson's disease and malignant melanoma

artículo científico publicado en 2014

The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil

artículo científico publicado en 2015

The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil

artículo científico publicado en 2016

The rate of the predominant Jewish mutations in the BRCA1, BRCA2, MSH2 and MSH6 genes in unselected Jewish endometrial cancer patients ⬇️

artículo científico publicado el 17 de septiembre de 2010

The rate of the recurrent MSH6 mutations in Ashkenazi Jewish breast cancer patients

artículo científico publicado en 2018

The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.

artículo científico publicado en 2015

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

scientific article published on 26 July 2019

The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel.

artículo científico publicado en 2017

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

artículo científico publicado en 2020

Whole-exome sequencing in individuals with multiple cardiovascular risk factors and normal coronary arteries

artículo científico publicado en 2016

Lista de obras de

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

A novel MSH2 germline mutation in a Druze HNPCC family

Abnormal Findings Detected by Multi-modality Breast Imaging and Biopsy Results in a High-risk Clinic

Abstracts from the 10th C1-inhibitor deficiency workshop.

An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women

Appendectomy and cancer risk in Jewish BRCA1 and BRCA2 mutation carriers ⬇️

Are VNTRs co-localizing with breast cancer-associated SNPs?

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Association between variants of 5-hydroxytryptamine receptor 3C (HTR3C) and chemotherapy-induced symptoms in women receiving adjuvant treatment for breast cancer

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

Breast cancer risk prediction accuracy in Jewish Israeli high-risk women using the BOADICEA and IBIS risk models

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

Breast cancer surveillance for BRCA1/2 mutation carriers - is "early detection" early enough?

Cancer risk in Jewish BRCA1 and BRCA2 mutation carriers: Effects of oral contraceptive use and parental origin of mutation ⬇️

Cancer risks in Jewish male BRCA1 and BRCA2 mutation carriers

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Circulating cell-free DNA (cfDNA) levels in BRCA1 and BRCA2 mutation carriers: A preliminary study

Colorectal and Endometrial Cancer Risk and Age at Diagnosis in BLMAsh Mutation Carriers

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

De novo mutation in MEN1 is not associated with parental somatic mosaicism

De novo pathogenic germline variant in PALB2 in a patient with pancreatic cancer

Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

Evidence for a link between TNFRSF11A and risk of breast cancer

Exploring the link between MORF4L1 and risk of breast cancer

FMR1 CGG allele length in Israeli BRCA1/BRCA2 mutation carriers and the general population display distinct distribution patterns

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer

Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer

Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel ⬇️

Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.

Germline mutations in RAD51C in Jewish high cancer risk families

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

Haplotype of the C61G BRCA1 mutation in Polish and Jewish individuals

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations.

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

Involvement of IGF-1R regulation by miR-515-5p modifies breast cancer risk among BRCA1 carriers

Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation

MC1R variant alleles and malignant melanoma risk in Israel.

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Monoclonal origin of anatomically distinct basal cell carcinomas

Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

Mutational analysis of candidate genes in Israeli male breast cancer cases.

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

Parkinson's disease genes do not segregate with breast cancer genes' loci

Phenocopy breast cancer rates in Israeli BRCA1 BRCA2 mutation carrier families: is the risk increased in non-carriers? ⬇️